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Identifier

000431645

Title

Bioinformatic analysis of intra and inter population HLA diversity in Crete for the creation of a regional public cord blood bank

Alternative Title

Βιοπληροφορική ανάλυση της ενδό και διαπληθυσμιακής ποικιλομορφίας HLA στην Κρήτη για τη δημιουργία περιφερειακής δημόσισς τράπεζας αίματος

Author

Στυλιανάκης, Εμμανουήλ

Thesis advisor

Ποταμιάς, Γεώργιος

Reviewer

Παπαδάκη, Ελένη
Παυλίδης, Παύλος

Abstract

In hematopoietic stem cell transplantation (HSCT), histocompatibility between a potential marrow donor and the recipient depends on the highly polymorphic human leukocyte antigen (HLA) system. Five of the most crucial HLA genes for histocompatibility that reside in this region are A, B, C, DRB1 and DQB1. Both the genotypes and the formed haplotypes of these genes have been a central topic of research in this area. Allogeneic HSCT is a curative therapy for hematologic, genetic diseases and immunodeficiencies. The source of hematopoietic stem cells (HSC) may be matched sibling donors (MSD), matched unrelated donors (MUD) and umbilical cord blood (UCB) units from public UCB banks. The use of haploidentical HSCT has extended the availability of allo-HSCT and has limited the use of UCB. However, the existence of public UCB banks increases the chance of finding an ideal MUD in countries with a relatively small population and large genetic diversity. This study was initiated by the regional public UCB bank of Crete, Greece operating in the University Hospital of Heraklion. The main aim of this study is to assess the need of a regional public UCB bank in Crete by creating an HLA profile of the Cretan population, by comparing it afterwards with one of the most representative European unrelated donor registries (UDR), i.e. the German DKMS and finally, by comparing the HLA genetic diversity between the 4 Prefectures of Crete. These assessments can provide valuable insights regarding the potential need for the enrichment of the national/international UDR with uncommon/rare HLA haplotypes through UCB donor recruitment. The comparative analyses of the estimated HLA allelic and haplotypic frequencies between the Cretan population and different cohorts from DKMS resulted in significant differences in the distribution of specific alleles and haplotypes, as well as in a low number of common haplotypes and a relatively large number of unique Cretan alleles with 9 possible novel alleles. Additionally, the 4 Prefectures of Crete do not seem to have similar immunogenetic profiles, probably due to significant geographical or cultural isolation. These findings suggest that the Cretan population is underrepresented in the common DKMS UDR whilst exhibiting high genetic diversity. Therefore, the regional public UCB bank could play an important role for the enrichment of the national and international UDR improving the possibility for a patient to find a MUD when needed

Language

English

Subject

Biobank

Transplantation

Βιοτράπεζα

Μεταμόσχευση

Issue date

2020-08-05

Collection

School/Department--School of Medicine--Department of Medicine--Post-graduate theses

Type of Work--Post-graduate theses